常染色体显性Pallister-Hall综合征患儿1例的GLI3基因变异分析

Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome

目的探讨1例Pallister-Hall综合征(PHS)患儿的临床特点及遗传学病因。方法选取2020年6月2日于南方医科大学珠江医院就诊的1例PHS患儿为研究对象。对患儿进行全外显子组检测,对候选变异进行Sanger测序家系验证。结果基因检测提示患儿携带GLI3基因(NM_000168)c.3320_3330delGGTACGAGCAG(p.G1107Afs×18)杂合变异,其父母均未携带相同变异。结论GLI3基因c.3320_3330delGGTACGAGCAG(p.G1107Afs×18)移码变异可能是患儿的遗传学病因。对于以下丘脑错构瘤、中心性多指(趾)畸形为主要特征的患儿,应考虑PHS并进行GLI3基因的变异检测。

Objective To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome(PHS).Methods DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing.Suspected variants were verified by Sanger sequencing of his family members.Results Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAG CAG(p.G1107Afs×18)variant of the GLI3 gene.Neither parent was found to carry the same variant.Conclusion The c.3320_3330delGGTACGAGCAG(p.G1107Afs×18)frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child.Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.